A Dedicated Children’s Clinic for Neurofibromatosis Type 1 (NF1)

3/28/2024 2:58:00 PM | Defining Med

The article is contributed/written by KK Women's and Children's Hospital

Early detection in primary care grants young patients access to timely support and life-long care.

WHAT IS NF1?

Neurofibromatosis Type 1 (NF1) is a rare disease caused by a fault in the tumour suppressor NF1 gene, which produces a protein that blocks the development of tumours and cancer. About one in 3,000 people are born with NF1.

This condition can affect the brain, spinal cord, nerves and skin, resulting in skin changes and the growth of tumours along the nerves. The median life expectancy of people with NF1 is at least eight years lower than that of the general population. They also have an increased risk of developing cancer during their lifetime in comparison to the general population.

NATION'S FIRST NF1 CLINIC FOR CHILDREN

KK Women's and Children's Hospital (KKH) has launched Singapore's first NF1 multidisciplinary clinic for children, jointly led by the Genetics Service, Haematology/Oncology Service and Department of Dermatology.

Long-term integrated care is provided by a multidisciplinary team consisting of specialists from the fields of genetics, dermatology, oncology, neurology, paediatric surgery, orthopaedic surgery, ophthalmology, radiology and other surgical specialties.

The multisystem involvement in NF1 allows for the holistic care of patients by a multidisciplinary team while reducing their clinic visits.

WHAT GPs SHOULD LOOK OUT FOR
Some symptoms of NF1 are age-dependent, with symptoms presenting gradually from early childhood, school-going age or even in adolescence. Hence, these cases may remain undetected for a long time. General practitioners (GPs) can help to play an active role in looking out for tell-tale signs of NF1, which can manifest with the following clinical features. An individual may be diagnosed with NF1 if they present with two or more of the following symptoms: Six or more café-au-lait spots that are > 5 mm in diameter in young children or > 15 mm in diameter after puberty Freckling around the armpits or groins Two or more neurofibromas, or one plexiform neurofibroma Eye manifestations such as optic pathway glioma, or two or more Lisch nodules Skeletal changes such as an enlargement or malformation of bones in the skeletal system A family history of NF1 A disease-causing variant in the NF1 gene They may also have other issues such as: Developmental issues (e.g., learning difficulties and behavioural issues such as attention-deficit/hyperactivity disorder) Hypertension Growth issues Macrocephaly Early detection during a routine developmental follow-up session can help patients receive timely diagnosis and support to optimise their quality of life.

WHAT GPs SHOULD LOOK OUT FOR

Some symptoms of NF1 are age-dependent, with symptoms presenting gradually from early childhood, school-going age or even in adolescence. Hence, these cases may remain undetected for a long time.

General practitioners (GPs) can help to play an active role in looking out for tell-tale signs of NF1, which can manifest with the following clinical features.

An individual may be diagnosed with NF1 if they present with two or more of the following symptoms:

Six or more café-au-lait spots that are > 5 mm in diameter in young children or > 15 mm in diameter after puberty
Freckling around the armpits or groins
Two or more neurofibromas, or one plexiform neurofibroma
Eye manifestations such as optic pathway glioma, or two or more Lisch nodules
Skeletal changes such as an enlargement or malformation of bones in the skeletal system
A family history of NF1
A disease-causing variant in the NF1 gene

They may also have other issues such as:

Developmental issues (e.g., learning difficulties and behavioural issues such as attention-deficit/hyperactivity disorder)
Hypertension
Growth issues
Macrocephaly

Early detection during a routine developmental follow-up session can help patients receive timely diagnosis and support to optimise their quality of life.

How GPs Can Refer

At KKH, the Genetics Service provides comprehensive care, holistic treatment and support for patients with rare diseases, to help individuals achieve optimal health outcomes and lead fulfilling lives.

GPs can refer patients to the KKH Genetics Service for assessment via:
Tel: 6692 2984 (Monday to Friday, 8.30am to 5.30pm; Saturday, 8.30am to 1.00pm)
Email: [email protected]